Shunsuke Miyai
Toyoake, Japan
Last Updated: 09/26/2026
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Found 11 publications
Mitochondrial DNA mutations can influence the post-implantation development of human mosaic embryos.
Mitochondrial DNA mutations can influence the post-implantation development of human mosaic embryos.
Journal: Frontiers in cell and developmental biology
Published: May 02, 2023
The effect of early irregular cell division of human embryos on blastocyst euploidy: considerations from the subsequent development of the blastomeres by direct or reverse cleavage.
Journal: F&S science
Published: August 09, 2022
Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.
Journal: The Journal of dermatology
Published: May 27, 2022
Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.
Journal: Human genome variation
Published: February 03, 2022
Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping.
Journal: Reproductive medicine and biology
Published: December 02, 2021
Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex.
Journal: Human genome variation
Published: August 03, 2021
Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant.
Journal: The Journal of dermatology
Published: June 19, 2021
Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases.
Journal: Cytogenetic and genome research
Published: March 06, 2020
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.
Journal: Journal of human genetics
Published: December 17, 2019
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.
Journal: Case reports in obstetrics and gynecology
Published: February 13, 2019
Showing 1-11 of 11
Last Updated: 09/26/2026